Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Dcaf8'

554595

Institutional Source

Beutler Lab

Gene Symbol

Dcaf8

Ensembl Gene

ENSMUSG00000026554

Gene Name

DDB1 and CUL4 associated factor 8

Synonyms

D1Dau35e, Wdr42a, D1Ucla4, H326

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172148084-172197005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172172797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 174 (V174A)

Ref Sequence

ENSEMBL: ENSMUSP00000073778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074144] [ENSMUST00000191689] [ENSMUST00000192704] [ENSMUST00000193638]

AlphaFold

Q8N7N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074144
AA Change: V174A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: V174A

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191689
AA Change: V174A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: V174A

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000192704
AA Change: V174A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: V174A

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193638
AA Change: V174A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: V174A

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195345

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	Het

Other mutations in Dcaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03163:Dcaf8	APN	1	172172908	missense	probably damaging	1.00
FR4976:Dcaf8	UTSW	1	172172856	missense	probably damaging	1.00
R0329:Dcaf8	UTSW	1	172187411	missense	probably benign	0.42
R0458:Dcaf8	UTSW	1	172174043	missense	probably benign	0.00
R0729:Dcaf8	UTSW	1	172172654	missense	probably benign
R0731:Dcaf8	UTSW	1	172172509	missense	possibly damaging	0.66
R1389:Dcaf8	UTSW	1	172174052	missense	probably benign	0.00
R1496:Dcaf8	UTSW	1	172193855	missense	probably benign	0.39
R1719:Dcaf8	UTSW	1	172175495	missense	probably damaging	0.96
R1856:Dcaf8	UTSW	1	172175553	missense	probably damaging	1.00
R2342:Dcaf8	UTSW	1	172186361	missense	possibly damaging	0.48
R2512:Dcaf8	UTSW	1	172189035	missense	possibly damaging	0.95
R4163:Dcaf8	UTSW	1	172192570	missense	probably damaging	1.00
R4546:Dcaf8	UTSW	1	172179893	splice site	probably benign
R4880:Dcaf8	UTSW	1	172187489	intron	probably benign
R5092:Dcaf8	UTSW	1	172186909	missense	probably benign	0.02
R5622:Dcaf8	UTSW	1	172186398	intron	probably benign
R5734:Dcaf8	UTSW	1	172172911	missense	possibly damaging	0.65
R6245:Dcaf8	UTSW	1	172165867	start codon destroyed	probably benign	0.01
R7090:Dcaf8	UTSW	1	172188968	missense	probably damaging	0.96
R8178:Dcaf8	UTSW	1	172186319	missense	probably benign	0.22
R8734:Dcaf8	UTSW	1	172193860	missense	probably benign	0.01
R8978:Dcaf8	UTSW	1	172194557	missense	probably benign	0.00
R8985:Dcaf8	UTSW	1	172172632	missense	probably benign
R9014:Dcaf8	UTSW	1	172179963	missense	possibly damaging	0.93
R9423:Dcaf8	UTSW	1	172179957	missense	probably damaging	1.00
R9500:Dcaf8	UTSW	1	172172342	missense	possibly damaging	0.63
Z1176:Dcaf8	UTSW	1	172172929	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TCATGGCCACTCAGACGAAG -3'
(R):5'- TTTGTGGCCACTCTCAAAGTC -3'

Sequencing Primer
(F):5'- GAACAACCTCGGCACCGTG -3'
(R):5'- GGCCACTCTCAAAGTCCAGTACTG -3'

Posted On

2019-06-07